Variations in environmental risk factors potentially influence incidence and progression in complex multifactorial diseases. Few studies have examined the association of survival in amyotrophic lateral sclerosis (ALS) with environmental geospatial variables. Here we use data from the Irish ALS cohort to perform such an analysis. Geographic data sources were used to generate small area values for four geospatial variables (population density, social deprivation, distance to coast, and distance to ALS multidisciplinary (MDT) clinic) for each ALS case on the Irish ALS register. These were combined with follow-up data and used as covariates in Royston-Parmar regression survival analysis including age of onset, site of onset, diagnostic delay, riluzole prescription and MDT clinic attendance as covariates. One thousand, two hundred and thirty-two patients with median survival of 2.31 years from disease onset were included. After addition of the individual geospatial variables in turn, none of the four variables was found to be associated with survival with a p-value <0.05. The results may reflect the public healthcare system that provides riluzole prescription and access to the MDT to all patients free of charge, and is also congruent with our recent finding that social deprivation is not associated with ALS incidence in Ireland.
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http://dx.doi.org/10.1080/21678421.2016.1179326 | DOI Listing |
Eur J Hum Genet
January 2025
Sequence Bioinformatics Inc., St. John's, NL, Canada.
Brain Topogr
October 2024
Academic Unit of Neurology, School of Medicine, Trinity Biomedical Sciences Institute, Trinity College Dublin, University of Dublin, Room 5.43, 152-160 Pearse Street, Dublin 2, D02 R590, Ireland.
Amyotrophic lateral sclerosis (ALS) is characterised primarily by motor system degeneration, with clinical evidence of cognitive and behavioural change in up to 50% of cases. We have shown previously that resting-state EEG captures dysfunction in motor and cognitive networks in ALS. However, the longitudinal development of these dysfunctional patterns, especially in networks linked with cognitive-behavioural functions, remains unclear.
View Article and Find Full Text PDFNeurology
June 2024
From the Academic Unit of Neurology (R.M., M.H., O.H.), and Department of Biostatistics (C.W.), Trinity College Dublin, Ireland.
Background And Objectives: To investigate the underlying reasons for variability in the incidence rate of amyotrophic lateral sclerosis (ALS) within the Irish population between the years 1996 and 2021.
Methods: The Irish ALS register was used to calculate the incidence and to subsequently extract age at diagnosis (age), year of diagnosis (period), and date of birth (cohort) for all incident patients within the study period (n = 2,771). An age-period-cohort (APC) model using partial least squares regression was constructed to examine each component separately and their respective contribution to the incidence while minimizing the well-known identifiability problem of APC effects.
JAMA Neurol
May 2024
Oxford Autoimmune Neurology Group, Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, United Kingdom.
Importance: Rapid and accurate diagnosis of autoimmune encephalitis encourages prompt initiation of immunotherapy toward improved patient outcomes. However, clinical features alone may not sufficiently narrow the differential diagnosis, and awaiting autoantibody results can delay immunotherapy.
Objective: To identify simple magnetic resonance imaging (MRI) characteristics that accurately distinguish 2 common forms of autoimmune encephalitis, LGI1- and CASPR2-antibody encephalitis (LGI1/CASPR2-Ab-E), from 2 major differential diagnoses, viral encephalitis (VE) and Creutzfeldt-Jakob disease (CJD).
Neurol Genet
February 2024
From the Academic Unit of Neurology (M.R., E.C., M.H., O.H.) and Smurfit Institute of Genetics (M.A.D., J.C.H., R.L.M.), Trinity College Dublin, Ireland; Department of Basic and Clinical Neuroscience (A.A., A.A.-C.), Maurice Wohl Clinical Neuroscience Institute, King's College London, United Kingdom; Department of Psychology (E.C.), Beaumont Hospital, Dublin, Ireland; King's College Hospital (A.A.-C.), London, United Kingdom; and Department of Neurology (O.H.), Beaumont Hospital, Dublin, Ireland.
Background And Objectives: A hexanucleotide repeat expansion in the noncoding region of the gene is the most common genetically identifiable cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia in populations of European ancestry. Pedigrees associated with this expansion exhibit phenotypic heterogeneity and incomplete disease penetrance, the basis of which is poorly understood. Relatives of those carrying the repeat expansion exhibit a characteristic cognitive endophenotype independent of carrier status.
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